Varaico: Literature-Extracted Genetic Variants

Gene:EPHB4
Variant:p.R744H
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EPHB4

NM_004444.5:p.R744H

Associated Papers

Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.

Palermo M et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025

Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.

Romano F et al.

Frontiers in Genetics, 2025

SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology.

Vanden Broek K et al.

Clinical Genetics, 2024

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Martin-Almedina S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."